U.S. flag

An official website of the United States government

NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 14, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000189204.2

Allele description [Variation Report for NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu)]

NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu)

Gene:
SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu)
Other names:
p.Q383E:CAA>GAA
HGVS:
  • NC_000002.12:g.165313732C>G
  • NG_008143.1:g.79331C>G
  • NM_001040142.2:c.1147C>GMANE SELECT
  • NM_001040143.2:c.1147C>G
  • NM_001371246.1:c.1147C>G
  • NM_001371247.1:c.1147C>G
  • NM_021007.3:c.1147C>G
  • NP_001035232.1:p.Gln383Glu
  • NP_001035233.1:p.Gln383Glu
  • NP_001358175.1:p.Gln383Glu
  • NP_001358176.1:p.Gln383Glu
  • NP_066287.2:p.Gln383Glu
  • NP_066287.2:p.Gln383Glu
  • NC_000002.11:g.166170242C>G
  • NM_021007.2:c.1147C>G
Protein change:
Q383E
Links:
dbSNP: rs796053178
NCBI 1000 Genomes Browser:
rs796053178
Molecular consequence:
  • NM_001040142.2:c.1147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.1147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.1147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.1147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.1147C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000242836GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 14, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000242836.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Gln383Glu (CAA>GAA): c.1147 C>G in exon 9 of the SCN2A gene (NM_021007.2). The Gln383Glu missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or among the various ethnic groups studied in the 1000 Genomes Project, indicating it is not a common benign variant in these populations. The amino acid substitution is non-conservative as an uncharged Glutamine residue is replaced by a negatively charged Glutamic acid residue. Gln383Glu alters a conserved position between the S5 and S6 segments of the first transmembrane domain of the protein and several in-silico algorithms predict it may be damaging to the structure/function of the protein. This variant has been observed de novo without verified parentage. The variant is found in EPILEPSY panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024